Morgan Stanley Children's Hospital

Pediatric Marfan Program

NewYork-Presbyterian is home to the best pediatric cardiology and heart surgery program in New York, according to U.S. News & World Report.

Overview

Marfan syndrome is a genetic condition that affects the connective tissues in the body that provide support for bones, muscles, eyes, blood vessels and the heart. Because the symptoms Marfan syndrome are varied and can worsen over time, it’s vital for your child to receive accurate and early diagnosis and treatment. The Pediatric Marfan Program at NewYork-Presbyterian Morgan Stanley Children’s Hospital has a team of specialists providing comprehensive care to children with Marfan syndrome and other connective tissue disorders. While there is no cure for Marfan syndrome, with proper diagnosis and management, children with this condition can live a long, full life.

What is Marfan Syndrome?

Marfan syndrome is an inherited disorder that affects the connective tissues in the body, causing signs and symptoms that affect the blood vessels, heart, eyes, skin, lungs, and bones of the hips, spine, feet, and rib cage. The signs and symptoms of Marfan syndrome can appear at any age. Some people have many features at birth or as young children; other people develop them as teens or even as adults. Some symptoms can get worse as people age.

Some signs and symptoms of Marfan syndrome are easier to see than others. These include:

  • Long arms, legs and fingers
  • Tall and thin body type
  • Curved spine
  • Chest sinks in or sticks out
  • Flexible joints
  • Flat feet
  • Crowded teeth
  • Stretch marks on the skin that are not related to weight gain or loss

Other symptoms of Marfan syndrome are harder to detect, including those involving the heart and the aorta, the large blood vessel that carries blood away from the heart to the rest of the body.  

Marfan syndrome and the heart

The most serious complications of Marfan syndrome involve the heart and surrounding vessels:

  • Aortic aneurysm: Marfan syndrome can cause the aorta to weaken and widen. An aortic aneurysm (bulging of the blood vessel) can develop which can put the walls of the aorta at risk for dissection (tearing apart)  and blood can leak into the space created by the tear. An aortic aneurysm and dissection can be life threatening.
  • Heart valve diseases: Marfan syndrome can cause problems with the aortic valve and the mitral valve. Aortic aneurysm may cause the aortic valve to not work properly, so that blood flows backward into the heart, called aortic regurgitation. Also, the mitral valve, which separates the left ventricle and left atrium, can become “floppy” and not form a tight seal. This can cause blood to flow backward into the left atrium, called mitral regurgitation. Heart valve problems cause the heart to work harder, which may lead to heart failure.
  • Arrhythmia: Heart valve diseases or other heart problems caused by Marfan syndrome can lead to an irregular heartbeat.

Recognizing the signs and symptoms of Marfan syndrome is important for the prevention and treatment of serious and life-threatening complications. An accurate and early diagnosis helps to ensure proper treatment that can prevent symptoms from getting worse and can ultimately save a person’s life.

About Our Program

The Pediatric Marfan Program at NewYork-Presbyterian Morgan Stanley Children’s Hospital provides comprehensive and coordinated care for children with Marfan syndrome and other connective tissue disorders.  We are recognized as an official pediatric Marfan center by the Marfan Foundation, and we are one of the few comprehensive Marfan centers in the New York area. We take an individualized approach to diagnosis and management, developing a plan of care for each child based on his or her particular needs.  Throughout NewYork-Presbyterian, we offer children and their families seamless access to our vast network of pediatric experts, services and resources.

How We Diagnose Marfan Syndrome

If your child is suspected to have Marfan syndrome, he or she will undergo a complete a series of diagnostic tests that may include:

  • Electrocardiogram (ECG or EKG): records the electrical activity of the heart to detect abnormal rhythms (arrhythmias or dysrhythmias)
  • Echocardiography (echo): evaluates the structure and function of the heart
  • Eye examination: looks at the interior of the eye using a device called a slit lamp
  • Magnetic resonance imaging (MRI) or computerized tomography (CT): produces images of internal tissues, bones, and organs
  • Genetic testing: useful when there is a family history of Marfan syndrome or when other tests are not conclusive. Genetic testing alone cannot diagnose Marfan syndrome.

How We Manage Marfan Syndrome from a Cardiac Standpoint

If your child is diagnosed with Marfan syndrome, a pediatric cardiologist will conduct a cardiac evaluation. Your child may be referred to other specialists in our program for evaluation. Because Marfan is an inherited disorder, we may also recommend genetic counseling to confirm the diagnosis and to give all family members information about the disorders.
Following these initial evaluations, our team will work with your family to create a treatment plan that addresses your child's specific needs.  Treatment for Marfan depends on which parts of the body are affected and may include:

Monitoring

A child with mild symptoms may not need immediate treatment or intervention. We may recommend regular monitoring instead, to watch for any changes that occur over time. Monitoring will likely include diagnostic imaging tests, such as MRI or CT scans of the body and heart, or echocardiograms to look for changes in the heart and aorta.

Medication

Medications are prescribed to slow the progression of aortic issues. Medications may include beta blockers, which lower blood pressure, and angiotensin receptor blockers, which relax blood vessels. Both medications are believed to reduce the risk of complications of the aorta.

Lifestyle Changes

With some lifestyle changes, children with Marfan syndrome can lead healthy, active lives. Your physician will discuss appropriate diet and exercise guidelines with you and your child.

Surgery

Severe complications of the aorta caused by Marfan syndrome include aortic dissection, which is a tear in the aortic wall; aortic aneurysm, a bulging or rupturing of the aortic wall; aortic valve disease, which happens when the heart's valves do not close properly; and mitral valve prolapse, in which the mitral valve does not close properly. Severe aortic and mitral valve complications sometimes require surgery.

Why Choose Us

Nationally ranked in pediatric cardiology and heart surgery

U.S. News & World Report has ranked NewYork-Presbyterian among the top pediatric cardiology and heart surgery programs in the country, reflecting our reputation and excellent outcomes, the expertise of our pediatric heart care teams, our high volume of cases, and other data related to patient care.

Leading congenital heart center

The NewYork-Presbyterian Congenital Heart Center, located at NewYork-Presbyterian Morgan Stanley Children's Hospital, is one of the largest and most preeminent pediatric cardiology and cardiac surgery centers in the nation. Our patients come to us from around the country and around the world to seek the most advanced, safest, and proven treatments for congenital heart conditions, and for the revision of previous surgery when prior treatment fails. Your child will benefit from the multidisciplinary services of our experienced and compassionate pediatric heart care team.

Advanced cardiogenetics program

The NewYork-Presbyterian cardiogenetics program offers advanced clinical evaluation, risk assessment, genetic testing and counseling, and comprehensive care for children with known or suspected genetic heart conditions. When appropriate, we identify research studies for which patients may qualify to understand their condition better or access new treatments in clinical trials. For patients planning their families, we provide reproductive options for having healthy children.

Comprehensive and seamless care through adulthood

When it’s time for your child to transition to adult care, the NewYork-Presbyterian Pediatric Marfan Program works closely with the Columbia Marfan Clinic, where experts provide a full spectrum of medical and surgical services for the evaluation and treatment of adults with Marfan Syndrome and related connective tissue disorders.

Referrals & Appointments

For 12 consecutive years, U.S News & World Reports has ranked NewYork-Presbyterian in more pediatric specialties than any other children’s hospital in the New York metropolitan area. We’ve consistently earned this high honor because of our dedication to providing children and their families the highest quality care.


Referrals & Appointments

For 12 consecutive years, U.S News & World Reports has ranked NewYork-Presbyterian in more pediatric specialties than any other children’s hospital in the New York metropolitan area. We’ve consistently earned this high honor because of our dedication to providing children and their families the highest quality care.

REFER A PATIENT

To refer a patient to the Pediatric Marfan Program, please contact Kathleen Gilmartin, program coordinator

Schedule an appointment today

To schedule an appointment or get additional information about the Pediatric Marfan Program, please contact Kathleen Gilmartin